All transcript variants in gene SMYD1

Information The variants shown are described using the NM_198274.3 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-45G>A r.(=) p.(=) g.88367339G>A Copied from the Exome Variant Server SMYD1_000014 1279/13006 83/8600 1196/4406
?/? c.-25C>T r.(=) p.(=) g.88367359C>T Copied from the Exome Variant Server SMYD1_000016 1/13006 0/8600 1/4406
?/? c.-21G>A r.(=) p.(=) g.88367363G>A Copied from the Exome Variant Server SMYD1_000018 1/13006 0/8600 1/4406
?/? c.45del r.(?) p.(Gly16Alafs*6) g.88367428del Copied from the Exome Variant Server SMYD1_000020 71/12516 47/8254 24/4262
?/? c.95T>C r.(?) p.(Ile32Thr) g.88367478T>C Copied from the Exome Variant Server SMYD1_000022 7/13006 0/8600 7/4406
?/? c.114T>A r.(=) p.(=) g.88367497T>A Copied from the Exome Variant Server SMYD1_000024 1/13006 1/8600 0/4406
?/? c.121G>T r.(?) p.(Ala41Ser) g.88367504G>T Copied from the Exome Variant Server SMYD1_000026 2/13006 1/8600 1/4406
?/? c.132T>A r.(?) p.(Phe44Leu) g.88367515T>A Copied from the Exome Variant Server SMYD1_000028 1/13006 1/8600 0/4406
?/? c.137+12del r.(=) p.(=) g.88367532del Copied from the Exome Variant Server SMYD1_000031 1/12516 0/8254 1/4262
?/? c.138-47C>A r.(=) p.(=) g.88383788C>A Copied from the Exome Variant Server SMYD1_000033 1/13006 1/8600 0/4406
?/? c.140T>C r.(?) p.(Leu47Pro) g.88383837T>C Copied from the Exome Variant Server SMYD1_000001 1/13006 1/8600 0/4406
?/? c.174G>T r.(?) p.(Arg58Ser) g.88383871G>T Copied from the Exome Variant Server SMYD1_000002 2/13006 0/8600 2/4406
?/? c.242A>G r.(?) p.(Asp81Gly) g.88383939A>G Copied from the Exome Variant Server SMYD1_000003 2/13006 2/8600 0/4406
?/? c.263A>G r.(?) p.(Asn88Ser) g.88383960A>G Copied from the Exome Variant Server SMYD1_000004 2/13006 0/8600 2/4406
?/? c.272C>T r.(?) p.(Ser91Leu) g.88383969C>T Copied from the Exome Variant Server SMYD1_000005 1/13006 1/8600 0/4406
?/? c.273G>A r.(=) p.(=) g.88383970G>A Copied from the Exome Variant Server SMYD1_000006 637/13006 586/8600 51/4406
?/? c.288T>C r.(=) p.(=) g.88383985T>C Copied from the Exome Variant Server SMYD1_000007 1/13006 0/8600 1/4406
?/? c.294G>A r.(=) p.(=) g.88383991G>A Copied from the Exome Variant Server SMYD1_000008 1/13006 0/8600 1/4406
?/? c.299C>A r.(?) p.(Pro100His) g.88383996C>A Copied from the Exome Variant Server SMYD1_000009 3/13006 3/8600 0/4406
?/? c.314+44C>T r.(=) p.(=) g.88384055C>T Copied from the Exome Variant Server SMYD1_000010 1/13006 1/8600 0/4406
?/? c.315-16G>A r.(=) p.(=) g.88387365G>A Copied from the Exome Variant Server SMYD1_000011 767/12994 506/8590 261/4404
?/? c.315-11C>T r.(=) p.(=) g.88387370C>T Copied from the Exome Variant Server SMYD1_000012 6/12998 0/8596 6/4402
?/? c.338G>A r.(?) p.(Arg113Gln) g.88387404G>A Copied from the Exome Variant Server SMYD1_000013 3/13004 1/8600 2/4404
?/? c.405C>A r.(?) p.(His135Gln) g.88387471C>A Copied from the Exome Variant Server SMYD1_000015 1/13006 1/8600 0/4406
?/? c.442C>A r.(=) p.(=) g.88387508C>A Copied from the Exome Variant Server SMYD1_000017 77/13006 68/8600 9/4406
?/? c.443G>T r.(?) p.(Arg148Leu) g.88387509G>T Copied from the Exome Variant Server SMYD1_000019 2/13006 2/8600 0/4406
?/? c.451G>A r.(?) p.(Val151Met) g.88387517G>A Copied from the Exome Variant Server SMYD1_000021 1/13006 0/8600 1/4406
?/? c.476C>G r.(?) p.(Pro159Arg) g.88387542C>G Copied from the Exome Variant Server SMYD1_000023 1/13006 0/8600 1/4406
?/? c.480G>A r.(=) p.(=) g.88387546G>A Copied from the Exome Variant Server SMYD1_000025 2/13006 0/8600 2/4406
?/? c.481C>G r.(?) p.(Gln161Glu) g.88387547C>G Copied from the Exome Variant Server SMYD1_000027 1/13006 1/8600 0/4406
?/? c.491A>C r.(?) p.(Gln164Pro) g.88387557A>C Copied from the Exome Variant Server SMYD1_000029 1968/13006 902/8600 1066/4406
?/? c.512C>T r.(?) p.(Ser171Leu) g.88387578C>T Copied from the Exome Variant Server SMYD1_000030 1/13006 0/8600 1/4406
?/? c.523G>C r.(?) p.(Gly175Arg) g.88387589G>C Copied from the Exome Variant Server SMYD1_000032 1/13006 0/8600 1/4406
?/? c.528+3_528+4insG r.spl? p.? g.88387597_88387598insG Copied from the Exome Variant Server SMYD1_000034 4/12520 3/8254 1/4266
?/? c.528+13C>T r.(=) p.(=) g.88387607C>T Copied from the Exome Variant Server SMYD1_000035 1/13006 1/8600 0/4406
?/? c.528+14G>A r.(=) p.(=) g.88387608G>A Copied from the Exome Variant Server SMYD1_000036 9/13006 0/8600 9/4406
?/? c.529-32C>T r.(=) p.(=) g.88390499C>T Copied from the Exome Variant Server SMYD1_000037 1/13006 1/8600 0/4406
?/? c.584T>C r.(?) p.(Val195Ala) g.88390586T>C Copied from the Exome Variant Server SMYD1_000038 1/13006 0/8600 1/4406
?/? c.588C>T r.(=) p.(=) g.88390590C>T Copied from the Exome Variant Server SMYD1_000039 1/13006 1/8600 0/4406
?/? c.591C>T r.(=) p.(=) g.88390593C>T Copied from the Exome Variant Server SMYD1_000040 2/13006 2/8600 0/4406
?/? c.624T>C r.(=) p.(=) g.88390626T>C Copied from the Exome Variant Server SMYD1_000041 2/13006 0/8600 2/4406
?/? c.659+37G>A r.(=) p.(=) g.88390698G>A Copied from the Exome Variant Server SMYD1_000042 3/13006 0/8600 3/4406
?/? c.659+40del r.(=) p.(=) g.88390701del Copied from the Exome Variant Server SMYD1_000043 21/12520 19/8254 2/4266
?/? c.660-37T>G r.(=) p.(=) g.88392999T>G Copied from the Exome Variant Server SMYD1_000044 109/13006 1/8600 108/4406
?/? c.660-3C>T r.spl? p.? g.88393033C>T Copied from the Exome Variant Server SMYD1_000045 1/13006 1/8600 0/4406
?/? c.682T>C r.(?) p.(Phe228Leu) g.88393058T>C Copied from the Exome Variant Server SMYD1_000046 1/13006 1/8600 0/4406
?/? c.698+3G>A r.spl? p.? g.88393077G>A Copied from the Exome Variant Server SMYD1_000047 2/13006 0/8600 2/4406
?/? c.698+16C>G r.(=) p.(=) g.88393090C>G Copied from the Exome Variant Server SMYD1_000048 29/13006 0/8600 29/4406
?/? c.699-34A>C r.(=) p.(=) g.88396080A>C Copied from the Exome Variant Server SMYD1_000049 4922/13006 3136/8600 1786/4406
?/? c.699-31C>T r.(=) p.(=) g.88396083C>T Copied from the Exome Variant Server SMYD1_000050 10/13006 6/8600 4/4406
?/? c.705G>A r.(=) p.(=) g.88396120G>A Copied from the Exome Variant Server SMYD1_000051 4917/13006 3132/8600 1785/4406
?/? c.708C>G r.(=) p.(=) g.88396123C>G Copied from the Exome Variant Server SMYD1_000052 4919/13006 3134/8600 1785/4406
?/? c.750G>A r.(=) p.(=) g.88396165G>A Copied from the Exome Variant Server SMYD1_000053 1/13006 1/8600 0/4406
?/? c.759T>C r.(=) p.(=) g.88396174T>C Copied from the Exome Variant Server SMYD1_000054 4928/13006 3139/8600 1789/4406
?/? c.769A>G r.(?) p.(Asn257Asp) g.88396184A>G Copied from the Exome Variant Server SMYD1_000055 1/13006 1/8600 0/4406
?/? c.771C>T r.(=) p.(=) g.88396186C>T Copied from the Exome Variant Server SMYD1_000056 1/13006 0/8600 1/4406
?/? c.795G>A r.(=) p.(=) g.88396210G>A Copied from the Exome Variant Server SMYD1_000057 14/13006 10/8600 4/4406
?/? c.798G>A r.(=) p.(=) g.88396213G>A Copied from the Exome Variant Server SMYD1_000058 106/13006 1/8600 105/4406
?/? c.877G>C r.(?) p.(Asp293His) g.88396292G>C Copied from the Exome Variant Server SMYD1_000059 1/13006 1/8600 0/4406
?/? c.888+9A>G r.(=) p.(=) g.88396312A>G Copied from the Exome Variant Server SMYD1_000060 2/13006 0/8600 2/4406
?/? c.888+10G>C r.(=) p.(=) g.88396313G>C Copied from the Exome Variant Server SMYD1_000061 3/13006 3/8600 0/4406
?/? c.888+45G>A r.(=) p.(=) g.88396348G>A Copied from the Exome Variant Server SMYD1_000062 3014/13006 1740/8600 1274/4406
?/? c.889-17G>A r.(=) p.(=) g.88402560G>A Copied from the Exome Variant Server SMYD1_000063 1651/13006 935/8600 716/4406
?/? c.897G>T r.(?) p.(Gln299His) g.88402585G>T Copied from the Exome Variant Server SMYD1_000064 100/13006 0/8600 100/4406
?/? c.912G>A r.(=) p.(=) g.88402600G>A Copied from the Exome Variant Server SMYD1_000065 2/13006 2/8600 0/4406
?/? c.958C>T r.(?) p.(Arg320Cys) g.88402646C>T Copied from the Exome Variant Server SMYD1_000066 1/13006 1/8600 0/4406
?/? c.959G>A r.(?) p.(Arg320His) g.88402647G>A Copied from the Exome Variant Server SMYD1_000067 2/13006 2/8600 0/4406
?/? c.963C>A r.(=) p.(=) g.88402651C>A Copied from the Exome Variant Server SMYD1_000068 87/13006 83/8600 4/4406
?/? c.981+15G>A r.(=) p.(=) g.88402684G>A Copied from the Exome Variant Server SMYD1_000069 1/13006 1/8600 0/4406
?/? c.998G>A r.(?) p.(Arg333Gln) g.88405860G>A Copied from the Exome Variant Server SMYD1_000070 30/13006 0/8600 30/4406
?/? c.1009G>A r.(?) p.(Glu337Lys) g.88405871G>A Copied from the Exome Variant Server SMYD1_000071 6/13006 5/8600 1/4406
?/? c.1014G>A r.(=) p.(=) g.88405876G>A Copied from the Exome Variant Server SMYD1_000072 1/13006 1/8600 0/4406
?/? c.1029T>C r.(=) p.(=) g.88405891T>C Copied from the Exome Variant Server SMYD1_000073 1/13006 1/8600 0/4406
?/? c.1042A>G r.(?) p.(Ile348Val) g.88405904A>G Copied from the Exome Variant Server SMYD1_000074 1/13006 1/8600 0/4406
?/? c.1047C>T r.(=) p.(=) g.88405909C>T Copied from the Exome Variant Server SMYD1_000075 1/13006 1/8600 0/4406
?/? c.1068T>C r.(=) p.(=) g.88405930T>C Copied from the Exome Variant Server SMYD1_000076 3/13006 3/8600 0/4406
?/? c.1113G>A r.(=) p.(=) g.88405975G>A Copied from the Exome Variant Server SMYD1_000077 3/13006 3/8600 0/4406
?/? c.1116C>G r.(?) p.(Phe372Leu) g.88405978C>G Copied from the Exome Variant Server SMYD1_000078 2/13006 1/8600 1/4406
?/? c.1145+9C>T r.(=) p.(=) g.88406016C>T Copied from the Exome Variant Server SMYD1_000079 2/13006 2/8600 0/4406
?/? c.1145+16A>G r.(=) p.(=) g.88406023A>G Copied from the Exome Variant Server SMYD1_000081 1/13006 1/8600 0/4406
?/? c.1145+34T>C r.(=) p.(=) g.88406041T>C Copied from the Exome Variant Server SMYD1_000083 1/13006 1/8600 0/4406
?/? c.1145+50C>T r.(=) p.(=) g.88406057C>T Copied from the Exome Variant Server SMYD1_000085 186/13006 177/8600 9/4406
?/? c.1146-51A>G r.(=) p.(=) g.88407839A>G Copied from the Exome Variant Server SMYD1_000087 138/13006 25/8600 113/4406
?/? c.1146-19A>G r.(=) p.(=) g.88407871A>G Copied from the Exome Variant Server SMYD1_000089 18/13006 10/8600 8/4406
?/? c.1146-3C>T r.spl? p.? g.88407887C>T Copied from the Exome Variant Server SMYD1_000091 3/13006 0/8600 3/4406
?/? c.1159C>A r.(?) p.(Pro387Thr) g.88407903C>A Copied from the Exome Variant Server SMYD1_000080 1/13006 0/8600 1/4406
?/? c.1178G>A r.(?) p.(Gly393Asp) g.88407922G>A Copied from the Exome Variant Server SMYD1_000082 6/13006 5/8600 1/4406
?/? c.1180A>C r.(?) p.(Met394Leu) g.88407924A>C Copied from the Exome Variant Server SMYD1_000084 1/13006 1/8600 0/4406
?/? c.1185C>T r.(=) p.(=) g.88407929C>T Copied from the Exome Variant Server SMYD1_000086 6/13006 4/8600 2/4406
?/? c.1186G>A r.(?) p.(Val396Met) g.88407930G>A Copied from the Exome Variant Server SMYD1_000088 3/13006 3/8600 0/4406
?/? c.1192C>T r.(?) p.(Arg398Trp) g.88407936C>T Copied from the Exome Variant Server SMYD1_000090 4/13006 1/8600 3/4406
?/? c.1193G>A r.(?) p.(Arg398Gln) g.88407937G>A Copied from the Exome Variant Server SMYD1_000092 7/13006 6/8600 1/4406
?/? c.1215T>C r.(=) p.(=) g.88407959T>C Copied from the Exome Variant Server SMYD1_000093 3609/13006 1593/8600 2016/4406
?/? c.1216G>A r.(?) p.(Ala406Thr) g.88407960G>A Copied from the Exome Variant Server SMYD1_000094 1/13006 1/8600 0/4406
?/? c.1253A>G r.(?) p.(Lys418Arg) g.88407997A>G Copied from the Exome Variant Server SMYD1_000095 7/13006 7/8600 0/4406
?/? c.1269C>T r.(=) p.(=) g.88408013C>T Copied from the Exome Variant Server SMYD1_000096 1/13006 1/8600 0/4406
?/? c.1280A>T r.(?) p.(His427Leu) g.88408024A>T Copied from the Exome Variant Server SMYD1_000097 1/13006 1/8600 0/4406
?/? c.1281C>T r.(=) p.(=) g.88408025C>T Copied from the Exome Variant Server SMYD1_000098 25/13006 23/8600 2/4406
?/? c.1302T>G r.(=) p.(=) g.88408046T>G Copied from the Exome Variant Server SMYD1_000099 2/13006 0/8600 2/4406
?/? c.1314+10G>A r.(=) p.(=) g.88408068G>A Copied from the Exome Variant Server SMYD1_000100 3/13006 3/8600 0/4406
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